GRIN3B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	ABCA7, ARHGAP45 +136 more	Copy number loss	See cases	GPathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 1285692	NM_138690.3(GRIN3B):c.-17A>G	GRIN3B	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2350052	NM_138690.3(GRIN3B):c.88C>G (p.Leu30Val)	GRIN3B (L30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349524	NM_138690.3(GRIN3B):c.130C>T (p.Pro44Ser)	GRIN3B (P44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283991	NM_138690.3(GRIN3B):c.148C>T (p.Arg50Cys)	GRIN3B (R50C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102534	NM_138690.3(GRIN3B):c.164C>T (p.Ala55Val)	GRIN3B (A55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596077	NM_138690.3(GRIN3B):c.176G>A (p.Arg59Gln)	GRIN3B (R59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282808	NM_138690.3(GRIN3B):c.208C>G (p.Leu70Val)	GRIN3B (L70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102537	NM_138690.3(GRIN3B):c.212G>T (p.Ser71Ile)	GRIN3B (S71I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648883	NM_138690.3(GRIN3B):c.240C>A (p.Pro80=)	GRIN3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2253098	NM_138690.3(GRIN3B):c.245G>A (p.Arg82His)	GRIN3B (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470458	NM_138690.3(GRIN3B):c.253G>A (p.Ala85Thr)	GRIN3B (A85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282806	NM_138690.3(GRIN3B):c.265C>G (p.Arg89Gly)	GRIN3B (R89G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102550	NM_138690.3(GRIN3B):c.341T>C (p.Leu114Pro)	GRIN3B (L114P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1274762	NM_138690.3(GRIN3B):c.349C>T (p.His117Tyr)	GRIN3B (H117Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2491325	NM_138690.3(GRIN3B):c.350A>T (p.His117Leu)	GRIN3B (H117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225320	NM_138690.3(GRIN3B):c.367A>G (p.Thr123Ala)	GRIN3B (T123A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282815	NM_138690.3(GRIN3B):c.422C>T (p.Ala141Val)	GRIN3B (A141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102551	NM_138690.3(GRIN3B):c.439C>G (p.Leu147Val)	GRIN3B (L147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282798	NM_138690.3(GRIN3B):c.476T>C (p.Leu159Pro)	GRIN3B (L159P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480816	NM_138690.3(GRIN3B):c.520G>C (p.Val174Leu)	GRIN3B (V174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102552	NM_138690.3(GRIN3B):c.619C>T (p.Arg207Trp)	GRIN3B (R207W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267062	NM_138690.3(GRIN3B):c.622C>T (p.Arg208Trp)	GRIN3B (R208W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314305	NM_138690.3(GRIN3B):c.647G>A (p.Arg216Gln)	GRIN3B (R216Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3102553	NM_138690.3(GRIN3B):c.662C>T (p.Pro221Leu)	GRIN3B (P221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346508	NM_138690.3(GRIN3B):c.668C>T (p.Ala223Val)	GRIN3B (A223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102554	NM_138690.3(GRIN3B):c.671C>G (p.Ala224Gly)	GRIN3B (A224G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407967	NM_138690.3(GRIN3B):c.671C>T (p.Ala224Val)	GRIN3B (A224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527675	NM_138690.3(GRIN3B):c.730C>T (p.Arg244Cys)	GRIN3B (R244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282812	NM_138690.3(GRIN3B):c.754G>A (p.Val252Ile)	GRIN3B (V252I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394187	NM_138690.3(GRIN3B):c.794C>T (p.Pro265Leu)	GRIN3B (P265L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482698	NM_138690.3(GRIN3B):c.826C>T (p.Pro276Ser)	GRIN3B (P276S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102555	NM_138690.3(GRIN3B):c.866T>G (p.Leu289Arg)	GRIN3B (L289R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282809	NM_138690.3(GRIN3B):c.889G>A (p.Val297Met)	GRIN3B (V297M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102556	NM_138690.3(GRIN3B):c.905G>A (p.Arg302Gln)	GRIN3B (R302Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282805	NM_138690.3(GRIN3B):c.914G>A (p.Gly305Asp)	GRIN3B (G305D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282800	NM_138690.3(GRIN3B):c.920C>T (p.Ala307Val)	GRIN3B (A307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397521	NM_138690.3(GRIN3B):c.935C>T (p.Pro312Leu)	GRIN3B (P312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408693	NM_138690.3(GRIN3B):c.970G>A (p.Gly324Arg)	GRIN3B (G324R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598310	NM_138690.3(GRIN3B):c.980A>C (p.Gln327Pro)	GRIN3B (Q327P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3102557	NM_138690.3(GRIN3B):c.983C>T (p.Pro328Leu)	GRIN3B (P328L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383434	NM_138690.3(GRIN3B):c.988G>C (p.Gly330Arg)	GRIN3B (G330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363903	NM_138690.3(GRIN3B):c.1006C>T (p.Arg336Cys)	GRIN3B (R336C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334211	NM_138690.3(GRIN3B):c.1018C>T (p.Arg340Trp)	GRIN3B (R340W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689167	NM_138690.3(GRIN3B):c.1019G>A (p.Arg340Gln)	GRIN3B (R340Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3282814	NM_138690.3(GRIN3B):c.1034C>T (p.Thr345Met)	GRIN3B (T345M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335894	NM_138690.3(GRIN3B):c.1036T>A (p.Ser346Thr)	GRIN3B (S346T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265488	NM_138690.3(GRIN3B):c.1121G>A (p.Arg374His)	GRIN3B (R374H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275048	NM_138690.3(GRIN3B):c.1132C>T (p.Arg378Trp)	GRIN3B (R378W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559998	NM_138690.3(GRIN3B):c.1133G>A (p.Arg378Gln)	GRIN3B (R378Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368091	NM_138690.3(GRIN3B):c.1168C>T (p.Arg390Trp)	GRIN3B (R390W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487648	NM_138690.3(GRIN3B):c.1172A>C (p.Asp391Ala)	GRIN3B (D391A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308211	NM_138690.3(GRIN3B):c.1172A>G (p.Asp391Gly)	GRIN3B (D391G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102530	NM_138690.3(GRIN3B):c.1174G>A (p.Gly392Ser)	GRIN3B (G392S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282811	NM_138690.3(GRIN3B):c.1193C>T (p.Pro398Leu)	GRIN3B (P398L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306417	NM_138690.3(GRIN3B):c.1208C>T (p.Ala403Val)	GRIN3B (A403V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785597	NM_138690.3(GRIN3B):c.1209A>G (p.Ala403=)	GRIN3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2227379	NM_138690.3(GRIN3B):c.1273C>T (p.His425Tyr)	GRIN3B (H425Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369504	NM_138690.3(GRIN3B):c.1303G>A (p.Glu435Lys)	GRIN3B (E435K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395850	NM_138690.3(GRIN3B):c.1343C>G (p.Pro448Arg)	GRIN3B (P448R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282804	NM_138690.3(GRIN3B):c.1385C>T (p.Ala462Val)	GRIN3B (A462V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102531	NM_138690.3(GRIN3B):c.1457G>A (p.Arg486Gln)	GRIN3B (R486Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102532	NM_138690.3(GRIN3B):c.1483T>C (p.Phe495Leu)	GRIN3B (F495L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357612	NM_138690.3(GRIN3B):c.1502G>A (p.Gly501Asp)	GRIN3B (G501D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276587	NM_138690.3(GRIN3B):c.1507G>A (p.Gly503Ser)	GRIN3B (G503S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282801	NM_138690.3(GRIN3B):c.1526G>A (p.Arg509Gln)	GRIN3B (R509Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313043	NM_138690.3(GRIN3B):c.1537T>C (p.Trp513Arg)	GRIN3B (W513R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512303	NM_138690.3(GRIN3B):c.1571G>A (p.Arg524Gln)	GRIN3B (R524Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467229	NM_138690.3(GRIN3B):c.1576C>T (p.His526Tyr)	GRIN3B (H526Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303731	NM_138690.3(GRIN3B):c.1583C>T (p.Ala528Val)	GRIN3B (A528V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463288	NM_138690.3(GRIN3B):c.1613G>A (p.Arg538His)	GRIN3B (R538H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102533	NM_138690.3(GRIN3B):c.1636A>G (p.Ser546Gly)	GRIN3B (S546G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525266	NM_138690.3(GRIN3B):c.1672C>T (p.Arg558Trp)	GRIN3B (R558W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102535	NM_138690.3(GRIN3B):c.1678C>T (p.Arg560Trp)	GRIN3B (R560W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390109	NM_138690.3(GRIN3B):c.1679G>A (p.Arg560Gln)	GRIN3B (R560Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785598	NM_138690.3(GRIN3B):c.1686G>A (p.Thr562=)	GRIN3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2539507	NM_138690.3(GRIN3B):c.1693C>A (p.Pro565Thr)	GRIN3B (P565T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493264	NM_138690.3(GRIN3B):c.1699G>C (p.Gly567Arg)	GRIN3B (G567R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253841	NM_138690.3(GRIN3B):c.1702G>A (p.Ala568Thr)	GRIN3B (A568T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617171	NM_138690.3(GRIN3B):c.1705T>C (p.Phe569Leu)	GRIN3B (F569L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217854	NM_138690.3(GRIN3B):c.1727C>A (p.Ser576Tyr)	GRIN3B (S576Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1292493	NM_138690.3(GRIN3B):c.1730C>T (p.Thr577Met)	GRIN3B (T577M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2273434	NM_138690.3(GRIN3B):c.1748C>A (p.Ala583Glu)	GRIN3B (A583E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282802	NM_138690.3(GRIN3B):c.1774C>T (p.Leu592Phe)	GRIN3B (L592F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282810	NM_138690.3(GRIN3B):c.1799C>A (p.Pro600His)	GRIN3B (P600H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 983129	NM_138690.3(GRIN3B):c.1811C>T (p.Thr604Met)	GRIN3B (T604M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3282807	NM_138690.3(GRIN3B):c.1817G>T (p.Arg606Leu)	GRIN3B (R606L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463198	NM_138690.3(GRIN3B):c.1828C>T (p.Arg610Cys)	GRIN3B (R610C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320255	NM_138690.3(GRIN3B):c.1873G>A (p.Ala625Thr)	GRIN3B (A625T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295006	NM_138690.3(GRIN3B):c.1889G>A (p.Arg630His)	GRIN3B (R630H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312162	NM_138690.3(GRIN3B):c.1894G>A (p.Val632Met)	GRIN3B (V632M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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